ClinVar Miner

List of variants in gene COL11A1 reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_001854.4(COL11A1):c.4302+48A>T rs114611626 0.00272
NM_001854.4(COL11A1):c.898-185T>C rs138792819 0.00263
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_001854.4(COL11A1):c.2556+92T>A rs550991929 0.00222
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00116
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001854.4(COL11A1):c.652-7T>C rs760697835 0.00088
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00039
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala) rs144966407 0.00037
NM_001854.4(COL11A1):c.990+7C>T rs137867554 0.00036
NM_001854.4(COL11A1):c.652-13T>G rs776608546 0.00020
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) rs145159429 0.00018
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398 0.00018
NM_001854.4(COL11A1):c.1246-6C>T rs199855455 0.00016
NM_001854.4(COL11A1):c.2295+6G>A rs372529718 0.00016
NM_001854.4(COL11A1):c.3492+3G>A rs372941709 0.00013
NM_001854.4(COL11A1):c.882A>G (p.Thr294=) rs201141662 0.00013
NM_001854.4(COL11A1):c.4380G>A (p.Leu1460=) rs180734278 0.00011
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=) rs369265343 0.00011
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00009
NM_001854.4(COL11A1):c.4087-4A>G rs137999403 0.00009
NM_001854.4(COL11A1):c.456C>T (p.Pro152=) rs751512442 0.00008
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288 0.00007
NM_001854.4(COL11A1):c.1833C>T (p.Asp611=) rs757133349 0.00006
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) rs142506188 0.00004
NM_001854.4(COL11A1):c.2656-20T>C rs886038501 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_001854.4(COL11A1):c.4608+34A>G rs199597559 0.00004
NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=) rs375400337 0.00003
NM_001854.4(COL11A1):c.4176C>A (p.Thr1392=) rs750903509 0.00003
NM_001854.4(COL11A1):c.1309-7G>A rs748684225 0.00002
NM_001854.4(COL11A1):c.4761A>G (p.Lys1587=) rs375667862 0.00002
NM_001854.4(COL11A1):c.1717A>G (p.Thr573Ala) rs560019202 0.00001
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.3147C>G (p.Pro1049=) rs539284752 0.00001
NM_001854.4(COL11A1):c.3402G>A (p.Pro1134=) rs763588142 0.00001
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=) rs372122122 0.00001
NM_001854.4(COL11A1):c.4545A>G (p.Lys1515=) rs575231157 0.00001
NM_001854.4(COL11A1):c.4609-8C>A rs777390779 0.00001
NM_001854.4(COL11A1):c.4677A>G (p.Glu1559=) rs202048103 0.00001
NM_001854.4(COL11A1):c.792G>A (p.Glu264=) rs755887906 0.00001
NM_001854.4(COL11A1):c.990+8G>A rs756299328 0.00001
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.1945-7C>T rs201424786
NM_001854.4(COL11A1):c.1974A>C (p.Gly658=)
NM_001854.4(COL11A1):c.1999-9T>C
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=) rs530187653
NM_001854.4(COL11A1):c.2043+4T>A rs764236870
NM_001854.4(COL11A1):c.2098-4dup rs764570124
NM_001854.4(COL11A1):c.2247C>G (p.Pro749=)
NM_001854.4(COL11A1):c.2656-12T>C rs769091234
NM_001854.4(COL11A1):c.2710-7G>A
NM_001854.4(COL11A1):c.275-17del rs3841819
NM_001854.4(COL11A1):c.2862+9C>T
NM_001854.4(COL11A1):c.2886T>C (p.Pro962=)
NM_001854.4(COL11A1):c.2922A>C (p.Pro974=) rs1570881250
NM_001854.4(COL11A1):c.3385-8A>C
NM_001854.4(COL11A1):c.3492+9T>A
NM_001854.4(COL11A1):c.3708+436A>G
NM_001854.4(COL11A1):c.3817-14_3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-15_3817-13dup rs34228277
NM_001854.4(COL11A1):c.4071T>G (p.Gly1357=)
NM_001854.4(COL11A1):c.4176C>T (p.Thr1392=)
NM_001854.4(COL11A1):c.4203A>G (p.Ala1401=)
NM_001854.4(COL11A1):c.4249-3T>C
NM_001854.4(COL11A1):c.474C>T (p.Asn158=)
NM_001854.4(COL11A1):c.4878T>C (p.Pro1626=) rs1570618762
NM_001854.4(COL11A1):c.612G>T (p.Thr204=) rs545867472
NM_001854.4(COL11A1):c.652-14T>G
NM_001854.4(COL11A1):c.652-14_652-13insTTG rs1553240902
NM_001854.4(COL11A1):c.652-19G>T rs750425179
NM_001854.4(COL11A1):c.652-8_652-6del
NM_001854.4(COL11A1):c.898-181G>A
NM_001854.4(COL11A1):c.898-193G>A
NM_001854.4(COL11A1):c.991-32G>A
NM_001854.4(COL11A1):c.991-33T>A

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.